Canonical Allele Identifier: CA382619151

Gene: SDHD

Linked Data

• ClinVar Variation Id: 824350
• ClinVar RCV Id: RCV001021382 ; RCV001861019
• dbSNP Id: rs1049692537
• gnomAD v4: 11-112094879-C-G
• MyVariant Identifiers: chr11:g.111965603C>G (hg19) ; chr11:g.112094879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094879C>G , CM000673.2:g.112094879C>G	GRCh38
NC_000011.9:g.111965603C>G , CM000673.1:g.111965603C>G	GRCh37
NC_000011.8:g.111470813C>G	NCBI36
NG_012337.2:g.13033C>G
NG_012337.3:g.13033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*128C>G	ENSP00000432946.2:n.*128C>G
ENST00000534010.2:c.314+5868C>G	ENSP00000433202.2:n.314+5868C>G
ENST00000375549.8:c.389C>G MANE Select	ENSP00000364699.3:p.Ala130Gly
ENST00000528021.6:c.314+5868C>G	ENSP00000432465.1:n.314+5868C>G
ENST00000375549.7:c.389C>G	ENSP00000364699.3:p.Ala130Gly
ENST00000525291.5:c.272C>G	ENSP00000436669.1:p.Ala91Gly
ENST00000525987.5:n.319+5868C>G
ENST00000526592.5:c.*87C>G	ENSP00000432005.1:n.*87C>G
ENST00000528021.5:c.314+5868C>G	ENSP00000432465.1:n.314+5868C>G
ENST00000528048.5:c.244C>G	ENSP00000436217.1:p.His82Asp
ENST00000528182.5:c.382C>G	ENSP00000435475.1:p.His128Asp
ENST00000530923.5:c.433C>G
ENST00000531744.5:c.314+5868C>G	ENSP00000456957.1:n.314+5868C>G
ENST00000532699.1:c.314+5868C>G	ENSP00000456434.1:n.314+5868C>G
ENST00000534010.1:c.145+5868C>G
NM_001276503.1:c.244C>G	NP_001263432.1:p.His82Asp
NM_001276504.1:c.272C>G	NP_001263433.1:p.Ala91Gly
NM_001276506.1:c.*87C>G	NP_001263435.1:n.*87C>G
NM_003002.3:c.389C>G	NP_002993.1:p.Ala130Gly
NR_077060.1:n.527C>G
NM_003002.4:c.389C>G MANE Select	NP_002993.1:p.Ala130Gly
NM_001276503.2:c.244C>G	NP_001263432.1:p.His82Asp
NM_001276504.2:c.272C>G	NP_001263433.1:p.Ala91Gly
NM_001276506.2:c.*87C>G	NP_001263435.1:n.*87C>G
NR_077060.2:n.478C>G